ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.338dup (p.Leu113fs)

dbSNP: rs1597635740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793049 SCV000932384 pathogenic Neurofibromatosis, type 1 2018-08-18 criteria provided, single submitter clinical testing Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with NF1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu113Phefs*14) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002442618 SCV001181611 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-06-29 criteria provided, single submitter clinical testing The c.338dupT pathogenic mutation, located in coding exon 4 of the NF1 gene, results from a duplication of T at nucleotide position 338, causing a translational frameshift with a predicted alternate stop codon (p.L113Ffs*14). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Genome-Nilou Lab RCV000793049 SCV002561571 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549869 SCV004800276 pathogenic NF1-related disorder 2024-02-02 no assertion criteria provided clinical testing The NF1 c.338dupT variant is predicted to result in a frameshift and premature protein termination (p.Leu113Phefs*14). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in NF1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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